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Schema
>
FailedReaction
>
Entries
Defective GNE does not hydrolyse UDP-GlcNAc
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authored
[InstanceEdit:4088407] Jassal, B, 2013-08-13
catalystActivity
[CatalystActivity:9631720] UDP-N-acetylglucosamine 2-epimerase activity of GNE mutants [cytosol]
category
transition
compartment
[Compartment:70101] cytosol
created
[InstanceEdit:4088407] Jassal, B, 2013-08-13
dbId
4088338
disease
[Disease:4088367] sialuria
[Disease:4088398] inclusion body myositis
displayName
Defective GNE does not hydrolyse UDP-GlcNAc
edited
[InstanceEdit:4088407] Jassal, B, 2013-08-13
entityFunctionalStatus
[EntityFunctionalStatus:4088356] loss_of_function of GNE mutants [cytosol]
eventOf
[Pathway:R-HSA-4085011] Defective GNE causes sialuria, NK and IBM2 - Homo sapiens
input
[SimpleEntity:R-ALL-29356] H2O [cytosol]
[SimpleEntity:R-ALL-162756] UDP-GlcNAc [cytosol]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:4085212] Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme
[LiteratureReference:4085223] The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
[LiteratureReference:4088349] Hereditary inclusion body myopathy: the Middle Eastern genetic cluster
[LiteratureReference:4088344] An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene
[LiteratureReference:4088396] Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene
[LiteratureReference:4088395] Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)
[LiteratureReference:4088383] Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant
[LiteratureReference:4085233] Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name
Defective GNE does not hydrolyse UDP-GlcNAc
normalReaction
[Reaction:R-HSA-4085021] GNE hydrolyzes/epimerises UDP-GlcNAc to ManNAc and UDP
releaseDate
2015-06-17
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:5690642] Spillmann, Dorothe, 2015-04-30
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-4088338
summation
[Summation:4088352] Bifunctional UDP-N-acetylglucosamine 2-epimerase, N-acetylma...
Referrals
(hasEvent)
[Pathway:R-HSA-4085011] Defective GNE causes sialuria, NK and IBM2
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